Some Concerns

There were two things that concerned me. First was the overwhelming emphasis on cognition and Alzheimer's disease. This focus was apparent from all angles, including the suggestions received from the Ds community.

Research on improving cognition in people with Down syndrome should be the major focus of the Research Plan – Agreed in part; it is a major focus, but given the other health issues in the Down syndrome population, it is not the sole focus.

The language used in the Congressional Directives highlights how research involving our loved ones is important for reasons other than the health of people with Down syndrome.

FISCAL YEAR 2014 (SENATE REPORT 113-071) Down Syndrome – The Committee applauds NIH for the establishment of the Down Syndrome Patient Registry. The Committee urges continued investment and development of the registry to fully realize its potential as a tool to stimulate meaningful clinical trials and research.The Committee recognizes that investing in Down syndrome-focused research has the potential to benefit many other diseases and conditions such as Alzheimer’s disease. Therefore, the Committee urges NIH to seek public-private partnerships aimed at developing preventive therapies for the dementia associated with both Down syndrome and Alzheimer’s disease.The Committee remains troubled by the stagnant number of investigator-driven research awards given in the area of Down syndrome and supports efforts to increase the Federal investment. The Committee requests a status update in the fiscal year 2015 congressional budget justification. The Committee urges the NIH to continue to utilize the Down Syndrome Consortium as it updates and implements the NIH Down Syndrome Research Plan.

Emphasis mine

Another research goal struck me as troublesome:

Determine whether individuals with cognitive impairment, including those with Down syndrome, could be considered as candidates for organ transplantation. (Status: Yet to begin.)

The way this is worded, it sounds to me like we need research to tell us whether our children should be given life-saving surgery... ???

The Good News

Most of the goals listed pertain to cognition and Alzheimer's (AD) research. While this is extremely important, it is not the only issue of concern. For this summary, I concentrated on those things that were not AD related.

Highlights for parents and caregivers of adults include initiatives to:

create and evaluate new technology,

study the impact of aging on families and caregivers, and

develop the research infrastructure needed to investigate racial disparities in health and survival rates.

Develop and/or adapt assistive devices, such as Global Positioning Systems (GPS) and mobile devices, to facilitate integration of an individual with Down syndrome into the workplace, residential or home environment, and community. (Status: In progress.) As the lifespans of individuals with Down syndrome continue to increase, investigate the impact on families of caring for them as they age. Develop a more complete demographic knowledge base, including factors that may contribute to differential survival rates among racial/ethnic groups, about individuals with Down syndrome. Use population-based data whenever feasible. (Status: In progress) Continue to include cohorts of people with Down syndrome in appropriate longitudinal epidemiologic research and cross-sectional studies, including those investigating the trajectory and risk factors for psychopathology across the lifespan. Work toward the development of an adult cohort of people with Down syndrome in different areas of the United States. (Status: In progress.) Consider ways to include participants with Down syndrome, including those of racial or ethnic minorities, in NIH-funded clinical trials.

The Future of Research

The full report represents a great deal of hard work and determination from numerous professionals. While Ds remains least funded major genetic condition by our National Institutes of Health (NIH) according to the Global Down Syndrome Foundation, it's obvious from this report that there are a lot of people trying to make the most of what they have and encouraging growth in the field.

Lack of yearly physical exams / limited access to care:

Research suggests (1) that primary care physicians may be able to respond to complaints, but may not be completing much needed preventative medicine options. Some doctors are unwilling to accept Medicaid patients, or patients they perceive as complicated (requiring more time / resources). They may feel inadequately trained to accept patients with intellectual and developmental disabilities.

Lack of emotional support:

Often people with developmental disabilities are surrounded by paid caregivers. One study found “A full 24.0% of these adults reportedly had no one to talk to about personal things or often felt lonely, a significantly higher rate than in the No Disability group.” (2) “The most common forms of stress reported in these studies include: hearing people argue, death or serious illness of someone close, constantly being interrupted, and not being quick enough. Interestingly, interpersonal stress seems to be most common. This may be because people with ID typically have limited control over who they are with and have limited ability to escape or end negative social interactions.” (3) Depression and behavior changes can result and impact overall health.

Dental disease:

“People with ID have poorer oral hygiene and higher prevalence and greater severity of periodontal disease. Caries rates in people with ID are the same as or lower than the general population. However, the rates of untreated caries are consistently higher in people with ID. Two subgroups at especially high risk for oral health problems are people with Down syndrome and people unable to cooperate for routine dental care.” (4) Many patients with intellectual disabilities rely on Medicaid, which does not offer adult dental coverage. Dental disease can contribute to a variety of other health issues.

Early onset Alzheimer’s disease and dementia:

People with Down syndrome are prone to early ageing and Alzheimer’s disease. Personality and behavioral changes, and a decrease in cognitive and language ability are indicators of the disease. (5) There is a tendency for providers and caregivers to overlook other issues that may present as a decline in functioning. (6) Other factors, including sleep issues, sensory and musculoskeletal impairments, and depression (7) need to be ruled out.

Age Related Comorbidity:

There is a higher probability that adults with Down syndrome will develop visual and hearing impairments, epilepsy, thyroid disorders, and dementia. Osteoporosis, obesity, diabetes, poor dental health, and the effects of taking several medications for a long period of time also diminish overall health. (8)

Where I Started

Until recently, I had an aversion to Down syndrome research, mostly medical research. (My admission is on record here.) I've been keeping an open mind as I learn more and getting to know some of the researchers has helped change my perspective. There's so much that we don't know, especially when it comes to adults who have Down syndrome, and research, done well, can help answer some of the questions we have as parents.

In my recent update on that first article I wrote about getting to meet Dr. Harpold and my desire to learn more about the difference in life expectancy due to race. We also interviewed Drs. Bardhan and Parisi from NIH about DS-Connect so that our community could learn more about the work they're doing and how we as families can help.

As someone who has battled with depression, the thought of it attacking my otherwise joyful son is not something I want to even consider. However, the science shows that it is possible, and maybe even a bit more likely, so I decided to attend the 321 eConference on Depression in People with Down Syndrome to find out what I should know and be looking for.

Ruth C. Brown, Ph.D.

The presenter is a postdoctoral fellow at the Virginia Institute for Psychiatric and Behavioral Genetics at Virginia Commonwealth University. Her primary research interest is in designing developmentally appropriate assessments of depression and anxiety in individuals with Down syndrome and other intellectual and developmental disabilities.

Risks for People who have Down syndrome

One of my main questions going in to the session was why, when the stereotypes tell us that people who have Down syndrome are "extraordinarily happy" is it thought that we need to worry about depression?

Dr. Brown talked about the increased risk for adults vs. children and gave several reasons why this might be true;

Social exclusion

Maltreatment

Limited occupational opportunities / independence

Decreased problem solving skills

Periods of high risk

Negative stress - death, injury, divorce

Life transitions - moving, new schools

In her presentation, Dr. Brown also talked about what signs to look for and treatment options that are available.

Another aspect of depression in our community is the difficulty in diagnosing the disorder. There are several factors that make traditional methods harder to use including limited speech and the possibility that depression could be a symptom of other issues like Alzheimer's, thyroid issues, or sleep problems.

Overall, the session was very informative and it got me really thinking about what I need to do to make sure this doesn't become a problem for my son. I would recommend the session to anyone who cares for an adult who has Down syndrome. With the session you get access to Dr. Brown's session slides. It's always better to be informed about what to look for and what to rule out before a crisis occurs.

The session is available through the 321 eConference Digital Library for those who attended Friday's sessions. If you missed the conference there's still time to purchase access to all of the recorded sessions. See the 321 eConference, or 321 eLearning sites for details. The library will be available until May 2nd.

This study was conducted as part of an undergraduate honors thesis project by students at the University of Calgary.

Participants were 12 parents – 6 with children who had intellectual disability (CD) – 6 who did not (ND) and whose children were between the ages of 3-9

6 THEMES EMERGED FROM THE INTERVIEWS:

MEANINGS OF HEALTH AND TREATMENT

Parents were more likely to accept cognitive enhancements (CE) as a form of “treatment” rather than “enhancement” – even without diagnosed “disability.” It was more acceptable for enhancements to be given to someone with "below average" intelligence in order to make them more "normal" than it was to give them to children with average intelligence to make them 'above average.' It was also more accepted if a child was “struggling.” Prescriptions and surgical treatments were especially considered to be treatments (of a medical nature). Natural products and devices were more acceptable for ND children because they were considered to be less risk of harm. Some considered self-esteem and overall well-being to be a component of health and therefore accepted CE in particular situations.

ROLE OF MEDICINE

Parents expressed concern over self-diagnosis and medicating. Concern was also presented about strict guidelines as to who “qualified” for CE and who did not. Parents did not want children to be subjected to unwanted interventions or unable to obtain CE because of criteria set on broad definitions of disability. Both groups expressed a desire to have CE used in conjunction with physician supervision and extensive research.

HARM

Generally the first consideration of all parents interviewed. Considerable risk were considered to be associated with all types of CE. Parents of CD children were able to provide more concrete examples of harm associated with pharmaceuticals than parents of ND children because they had either more firsthand experience or had previously considered the option.

THE “GOOD” PARENT

Parents from both groups expressed that the choice should not be made based on pressure from other parents or social norms. One of the differences between parents of ND children and children with CD was that parents of children with CD noted the possibility of being forced into using pharmaceuticals because of the current state of health care and lack of support for using alternative, more desirable, methods.

NORMALITY & SELF-PERCEPTION

Some of the parents were attracted to CE products in order to their child feel more normal, because the real or perceived abnormality was harming their child emotionally or socially. However, parents found it hard to strike a balance between achieving normality while still encouraging their child to accept themselves for who they were. Both groups of participants expressed worry that encouraging their child to take CE products would leave their child feeling 'broken' or incomplete as a person, even when the intention of the products was to mitigate their child's suffering.

ABILITY

Parents noted that the consequences of below-average ability include: “low self-confidence, limited opportunities, and social isolation.” The cognitive ability – in and of itself – was not important. What was important to the parents was outcomes – being able to “fit in,” and for parent of children with CD, being able to communicate, “cope,” learn, gain independence, and function on a day-to-day basis without struggling. “Natural” abilities were more desirable. Only the parents of children with CD discussed more “fundamental” abilities such as being able to communicate, learn, and cope with everyday life.

DISCUSSION / CONCLUSIONS

“Parents were generally hesitant toward their children using CE products. They related this hesitancy to issues of disability, harm, confidence, competitiveness, and acceptance from peers, parents, and self.”

“Parents viewed themselves as being responsible for avoiding harm in their child’s life wherever possible and risking harm for their child for the purposes of CE was seen as unacceptable to all participants in this study.”

Compared to other studies, parents in this one were more concerned with changes in identity of the child that came from a perceived message they would be sending by encouraging or forcing their children to use CE products in order to be “loved, happy, successful and complete.”

There were more similarities than differences between the parent groups. One important difference was that parents of children with a CD were able to give concrete examples, not hypothetical stories, of what it is like to see your child struggle and firsthand experience with pharmaceutical interventions. They also: “expressed that the way society was structured often worked against their child because of their ability differences, and as a result, sometimes they felt desperate and used approaches that they may not have even considered previously.”

For purposes of this study, CE was defined as interventions that would create “above average” results. Parents on the other hand continuously referred to the interventions as being disability based and used to mitigate struggle. Using CE products for children who did not have a disability or disease was unacceptable because they could: “damage a child’s self-esteem, run the risk of putting the child’s physical health in jeopardy, and/or perpetuate unhealthy levels of cognitive competition between children.”

Products not marketed as being medical treatments would be more popular.

Results suggest that parents who push their children to use these products will be stigmatized by other parents who view them as “being too preoccupied with outward appearance, overly competitive, and failing to care properly for their child.” This is multiplied for the use of CE when children have less autonomy (as the case with children who have a disability) and brings up the issue of CE products being used in secrecy.

Parents in this study suggested that they would rely on physicians to know the risks and benefits of these products and be able to monitor their use. Physicians have reported in the past that they may not feel comfortable with prescribing these products because of the lack of available information – scope of their practice.

Terms such as ethics, or ethical treatment were not used once by participants in this study. The only reference made to moral decisions was made in reference to not judging parents who use the products.

Researchers talked about the future of CE products and more wide-spread use. Implications including the idea that use by “typical” children to obtain above average intelligence may negatively affect people with CD, creating further stigmatization and competition for services.

JOIN THE DISCUSSION

Don't forget to go back to our "Research Forum" and tell us what you think about this study.